ABSTRACT Genetic technology has advanced dramatically in the past few decades and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis Two of the newer genetic technologies in the prenatal setting are chromosomal microarr...

ABSTRACT Current sexuality education programs vary widely in the accuracy of content emphasis and effectiveness Data have shown that not all programs are equally effective for all ages races and ethnicities socioeconomic groups and geographic areas Studies have demonstrated that comprehensive sexu...

ABSTRACT Once considered a waste product that was discarded with the placenta umbilical cord blood is now known to contain potentially lifesaving hematopoietic stem cells When used in hematopoietic stem cell transplantation umbilical cord blood offers several distinct advantages over bone marrow o...

ABSTRACT Advances in the understanding of genetic conditions reproductive technologies and improved medical and surgical care have enabled an increasing number of women with genetic conditions to achieve a normal pregnancy outcome However management of certain genetic conditions during pregnancy i...

ABSTRACT Noninvasive prenatal screening that uses cellfree DNA from the plasma of pregnant women offers tremendous potential as a screening method for fetal aneuploidy A number of laboratories have validated different techniques for the use of cellfree DNA as a screening test for fetal aneuploidy ...

ABSTRACT A hereditary cancer syndrome is a genetic predisposition to certain types of cancer often with onset at an early age caused by inherited mutations in one or more genes Cases of cancer commonly encountered by obstetriciangynecologists or other obstetricgynecologic providersmdashsuch as bre...

ABSTRACT Newborn screening is a mandatory statebased public health program that provides all newborns in the United States with presymptomatic testing and necessary followup health care for a variety of medical conditions The goal of this essential public health program is to decrease morbidity an...

ABSTRACT Von Willebrand disease the most common inherited bleeding disorder among American women is a common cause of heavy menstrual bleeding and other bleeding problems in women and adolescent girls Von Willebrand disease and other inherited and acquired disorders of coagulation and hemostasis s...

ABSTRACT Myelomeningocele the most severe form of spina bifida occurs in approximately 1 in 1500 births in the United States Fetuses in whom myelomeningocele is diagnosed typically are delivered at term and are treated in the early neonatal period A recent randomized controlled trial found that fe...

ABSTRACT Advances in genetic technologies have led to the identification of hundreds of single nucleotide polymorphisms that are associated with a variety of complex diseases including cancer diabetes cardiovascular disease and Alzheimer disease Although personalized genomic tests that provide inf...

ABSTRACT Pharmacogenetics is the study of genetic variations in drug response that are determined by specific genes It is hoped that the use of pharmacogenetics in clinical practice may improve drug safety and decrease the rate of adverse drug reactions Given the potential applications of pharmaco...

ABSTRACT In 2001 the American College of Obstetricians and Gynecologists and the American College of Medical Genetics introduced guidelines for prenatal and preconception carrier screening for cystic fibrosis The American College of Obstetricians and Gynecologists Committee on Genetics has updated...

ABSTRACT Family history plays a critical role in assessing the risk of inherited medical conditions and single gene disorders Several methods have been established to obtain family medical histories including the family history questionnaire or checklist and the pedigree The screening tool selecte...

ABSTRACT Fragile X syndrome is the most common inherited form of mental retardation The syndrome occurs in approximately 1 in 3600 males and 1 in 40006000 females Approximately 1 in 250 females carry the premutation DNAbased molecular analysis is the preferred method of diagnosis for fragile X syn...

ABSTRACT Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish Ashkenazi descent Previously the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening fo...

ABSTRACT Spinal muscular atrophy SMA is an autosomal recessive neurodegenerative disease that results from degeneration of spinal cord motor neurons leading to atrophy of skeletal muscle and overall weakness In current practice patients with a family history of SMA are being offered carrier screen...

ABSTRACT Genetic testing is poised to play an increasing role in the practice of obstetrics and gynecology To assure patients of the highest quality of care physicians should become familiar with the currently available array of genetic tests and the tests limitations Clinicians should be able to ...

ABSTRACT Marketing of genetic testing although similar to directtoconsumer advertising of prescription drugs raises additional concerns and considerations These include issues of limited knowledge among patients and health care providers of available genetic tests difficulty in interpretation of g...

ABSTRACT TaySachs disease TSD is a severe progressive neurologic disease that causes death in early childhood Carrier screening should be offered before pregnancy to individuals and couples at high risk including those of Ashkenazi Jewish FrenchCanadian or Cajun descent and those with a family his...